Marfan Syndrome
Marfan syndrome is a genetic disorder affecting the connective tissues that provide support and elasticity to structures throughout your body. Marfan Syndrome is caused by a change (mutation) in the gene FBN1. This gene gives instructions for making the protein fibrillin-1, which helps build strong, stretchy fibers in connective tissue that hold our bodies together. When FBN1 is mutated, the body makes a faulty version of fibrillin-1 that cannot do its job. As a result, tissues in the body become weak and overly stretchy, and bones can overgrow.
Symptoms of Marfan Syndrome
Marfan syndrome affects connective tissue throughout the body, so symptoms span several systems. It's important to note that not everyone with Marfan syndrome is tall. Tall height is a classic feature, but not a requirement.
How is Marfan Syndrome Diagnosed?
There's no single test to diagnose Marfan Syndrome. Instead, doctors look at several clues together and see if they add up. To see if you have the condition, your doctor may:
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Ask about your family and medical history
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Perform a physical exam
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Order blood and imaging tests
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Order genetic testing to look for the changed gene (FBN1) that causes Marfan syndrome
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What treatment is available for Marfan Syndrome?
There is currently no cure, so treatment focuses on managing symptoms and preventing complications. It typically includes regular heart monitoring, medications such as beta blockers to reduce strain on the aorta, and, when necessary, surgery to repair the aorta or heart valves.
Medication
beta blockers to reduce strain on the aorta
Heart Monitoring
Regular echocardiograms to monitor aortic root diameter, typically every 6–12 months
Activity Guidance
Avoiding activity that spikes blood pressure; physical therapy for joint stabilization
Surgery
Surgical intervention with specialists familiar with Marfan Syndrome
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Sources
Cleveland Clinic. (2025, March 27). Marfan syndrome: Symptoms, causes & treatment. https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome Johns Hopkins Medicine. (n.d.). Marfan syndrome. https://www.hopkinsmedicine.org/health/conditions-and-diseases/marfan-syndrome Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., & De Paepe, A. M. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of medical genetics, 47 (7), 476–485. https://doi.org/10.1136/jmg.2009.072785 https://www.orpha.net/pdfs/data/patho/Pro/en/Marfan_diagnostic_criteria_EN.pdf The Marfan Foundation. Getting diagnosed. https://marfan.org/expectations/diagnosis/ The Marfan Foundation. Summary of diagnostic criteria. https://marfan.org/dx/rules/ The Marfan Foundation. Treatment. https://marfan.org/about/treatment/ The Marfan Foundation. Bones and joints. https://marfan.org/about/body-systems/bones-and-joints/ Mayo Clinic. (2024, March 22). Marfan syndrome: Symptoms and causes. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782 Mayo Clinic. (2024, March 22). Marfan syndrome: Diagnosis and treatment. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787 National Human Genome Research Institute. (2019, March 9). About Marfan syndrome. https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome
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